Abstract
Müsküler distrofiler kalıtımsal özellik gösteren ilerleyici miyopatik bozukluklardır. Normal kas fonksiyonu için gerekli olan çok sayıdaki çeşitli genlerin defekti sonucu ortaya çıkarlar, temel bulguları kas güçsüzlüğüdür. Fasio-Skapulo-Humeral Müsküler Distrofi otozomal dominant kalıtılır. Yüz, skapular, omuz, bacak, kalça kuşağı kaslarının sıklıkla asimetrik etkilendiği, yavaş ilerleyen kas güçsüzlüğü ile karakterizedir. Olgumuz klasik Fasio-Skapulo-Humeral Müsküler Distrofi’ye tanısal yaklaşımı, hastalığın klinik seyrini ve prognozunu hatırlatmak amacıyla sunulmuştur.
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Abstract
The musculer dystrophies are inherited disorders manifested with progressive myopathic features. It forms as a result of the defects in numerous genes required for normal muscle function. Basic finding is muscle weakness. Facioscapulohumeral muscular dystrophy is an autosomal dominantly inherited disease. In most cases, it is characterized by asymmetric, slowly progressive muscle weakness involving the facial, scapular, upper arm, lower leg and hip girdle muscles. The case examined in this study was presented here to remind practioners diagnostic approach, clinical course of the disease and the prognosis of the classic form of Facioscapulohumeral muscular dystrophies.
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Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Articles |
| Authors | |
| Publication Date | March 22, 2016 |
| Submission Date | December 28, 2015 |
| Published in Issue | Year 2015 Volume: 8 Issue: 3 |
Cite
MEU Journal of Health Sciences Assoc was began to the publishing process in 2008 under the supervision of Assoc. Prof. Gönül Aslan, Editor-in-Chief, and affiliated to Mersin University Institute of Health Sciences. In March 2015, Prof. Dr. Caferi Tayyar Şaşmaz undertook the Editor-in Chief position and since then he has been in charge.
Publishing in three issues per year (April - August - December), it is a multisectoral refereed scientific journal. In addition to research articles, scientific articles such as reviews, case reports and letters to the editor are published in the journal. Our journal, which has been published via e-mail since its inception, has been published both online and in print. Following the Participation Agreement signed with TÜBİTAK-ULAKBİM Dergi Park in April 2015, it has started to accept and evaluate online publications.
Mersin University Journal of Health Sciences have been indexed by Turkey Citation Index since November 16, 2011.
Mersin University Journal of Health Sciences have been indexed by ULAKBIM Medical Database from the first issue of 2016.
Mersin University Journal of Health Sciences have been indexed by DOAJ since October 02, 2019.
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